ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.158C>T (p.Ala53Val) (rs1879761)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041465 SCV000340864 benign not specified 2016-04-29 criteria provided, single submitter clinical testing
GeneDx RCV000041465 SCV000730601 benign not specified 2017-09-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
GeneReviews RCV000021036 SCV000041690 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.
Illumina Clinical Services Laboratory,Illumina RCV000275495 SCV000429658 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041465 SCV000065160 benign not specified 2010-04-23 criteria provided, single submitter clinical testing Ala53Val in exon 3 of OTOF: This variant is not expected to have clinical signif icance because it was detected in normal hearing controls and it involves a chan ge at a position that is not conserved (Jiminez 2007, Varga 2006). In addition, it has been seen in an unpublished study with a minor allele frequency of 3% and has been identified in 10/122 (8%) of individuals tested by our laboratory. Thi s variant is also listed in dbSNP (rs1879761 - no frequency data available).
PreventionGenetics RCV000041465 SCV000316845 benign not specified criteria provided, single submitter clinical testing

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